Maple syrup urine disease: case report of 2 Thai infants.

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dc.contributor.authorChiemchanya, Sen_US
dc.contributor.authorSuthutvoravut, Uen_US
dc.contributor.authorVisudhiphan, Pen_US
dc.date.accessioned2009-05-27T20:15:05Z
dc.date.available2009-05-27T20:15:05Z
dc.date.issued1989-01-01en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractMaple syrup urine disease (MSUD) is a rare inborn error of metabolism characterized by typical urine odor. The deficiency of branched-chain ketoacid decarboxylase enzyme is responsible for the clinical abnormalities. The classical disease usually manifests in the neonatal period with lethargy, refused feeding, seizures and death. Since 1984, at the Department of Pediatrics, Ramathibodi hospital, 2 patients with classical MSUD have been seen. The parents of one patient were relatives and already had 2 affected but undiagnosed daughters. Both patients had strong urine odor which was described as the odor of boiled Chinese herbal medicine. The first child died at 4 months old and the second was severely retarded at one year old. The importance of early diagnosis and genetic counselling are emphasized.en_US
dc.identifier.citationChiemchanya S, Suthutvoravut U, Visudhiphan P. Maple syrup urine disease: case report of 2 Thai infants. Journal of the Medical Association of Thailand. 1989 Jan; 72 Suppl 1(): 116-20en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/42649
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaple Syrup Urine Disease --geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshThailanden_US
dc.titleMaple syrup urine disease: case report of 2 Thai infants.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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